Синдром Пфайфера
ORPHA:710· ICD-10 Q87.0· Pfeiffer syndrome
Визначення(English summary)
An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant
- Вік початку
- Antenatal, Neonatal